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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 9176 - 9200 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Mus musculus (house mouse)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Mus musculus (house mouse)
DOID:0112029
  • non-syndromic X-linked intellectual disability 50
  • Aliases:
    • MRX50
    • X-linked intellectual developmental disorder 50
    • X-linked mental retardation 50
    • XLID50
Mus musculus (house mouse)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Mus musculus (house mouse)
DOID:0111279
  • psoriasis 7
  • Aliases:
    • PSORS7
Mus musculus (house mouse)
DOID:0110883
  • inflammatory bowel disease 17
  • Aliases:
    • IBD17
Mus musculus (house mouse)
DOID:0060412
  • chromosome 1q41-q42 deletion syndrome
  • Aliases:
    • 1q41-q42 microdeletion syndrome
    • 1q41q42 microdeletion syndrome
Mus musculus (house mouse)
DOID:0110451
  • dilated cardiomyopathy 1O
  • Aliases:
    • CMD1O
    • dilated cardiomyopathy with ventricular tachycardia
Mus musculus (house mouse)
DOID:0060569
  • hypertrichotic osteochondrodysplasia Cantu type
  • Aliases:
    • Cantu syndrome
Mus musculus (house mouse)
DOID:0112262
  • leucine-sensitive hypoglycemia of infancy
  • Aliases:
    • LIH
    • leucine-induced hypoglycemia
Mus musculus (house mouse)
DOID:0070219
  • familial hyperinsulinemic hypoglycemia 1
  • Aliases:
    • HHF1
Mus musculus (house mouse)
DOID:0060334
  • transient neonatal diabetes mellitus
Mus musculus (house mouse)
DOID:0111140
  • IGSF1 deficiency syndrome
  • Aliases:
    • CHTE
    • X-linked central congenital hypothyroidism with late-onset macroorchidism
    • X-linked central congenital hypothyroidism with late-onset testicular enlargement
    • central hypothyroidism and testicular enlargement
Mus musculus (house mouse)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Mus musculus (house mouse)
DOID:0080436
  • developmental and epileptic encephalopathy 4
  • Aliases:
    • DEE4
    • early infantile epileptic encephalopathy 4
Mus musculus (house mouse)
DOID:150
  • disease of mental health
Mus musculus (house mouse)
DOID:0111807
  • syndromic microphthalmia 9
  • Aliases:
    • Matthew-Wood syndrome
    • anophthalmia-pulmonary hypoplasia syndrome
    • anophthalmia/microphthalmia and pulmonary hypoplasia
    • clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
    • pulmonary agenesis microphthalmi and diaphragmatic defect
    • spear syndrome
Mus musculus (house mouse)
DOID:0070400
  • hypomyelinating leukodystrophy 19
  • Aliases:
    • HLD19
Mus musculus (house mouse)
DOID:8670
  • eating disorder
Mus musculus (house mouse)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Mus musculus (house mouse)
DOID:0080089
  • tubular aggregate myopathy 1
Mus musculus (house mouse)
DOID:0111970
  • immunodeficiency 10
  • Aliases:
    • CID due to STIM1 deficiency
    • IMD10
    • STIM1 deficiency
    • combined immunodeficiency due to STIM1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 2
Mus musculus (house mouse)
DOID:0110066
  • amelogenesis imperfecta type 1G
  • Aliases:
    • AI1G
    • AIGFS
    • ERS
    • amelogenesis imperfecta and gingival fibromatosis syndrome
    • amelogenesis imperfecta hypoplastic with nephrocalcinosis
    • amelogenesis imperfecta type IG
    • enamel-renal syndrome
    • enamel-renal-gingival syndrome
Mus musculus (house mouse)
DOID:0080556
  • congenital disorder of glycosylation Id
  • Aliases:
    • congenital disorder of glycosylation 1d
Mus musculus (house mouse)
DOID:0080837
  • growth hormone insensitivity syndrome with immune dysregulation 2
Mus musculus (house mouse)
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Last updated: December 9, 2024